nsv3911268
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,177,035
- Description:GRCh38/hg38 9p24.3-24.2(chr9:1845513-3022547)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3324 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3326 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 970 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911268 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 1,845,513 | 3,022,547 |
| nsv3911268 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 1,845,513 | 3,022,547 |
| nsv3911268 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 1,835,513 | 3,012,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137756 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140756.5, VCV000152115.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137756 | Submitted genomic | NC_000009.12:g.(?_ 1845513)_(3022547_ ?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 1,845,513 | 3,022,547 |
| nssv15137756 | Submitted genomic | NC_000009.11:g.(?_ 1845513)_(3022547_ ?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 1,845,513 | 3,022,547 |
| nssv15137756 | Submitted genomic | NC_000009.10:g.(?_ 1835513)_(3012547_ ?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 1,835,513 | 3,012,547 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137756 | GRCh37: NC_000009.11:g.(?_1845513)_(3022547_?)dup, GRCh38: NC_000009.12:g.(?_1845513)_(3022547_?)dup, NCBI36: NC_000009.10:g.(?_1835513)_(3012547_?)dup | copy number gain | de novo | See cases | Uncertain significance | ClinVar | RCV000140756.5, VCV000152115.2 | 3 |